Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 Biomarker HPO